ATG5 Gene (Protein Coding)

Autophagy Related 5

GC06M106045
GIFtS:
44
The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymp... See more...

Aliases for ATG5 Gene

Aliases for ATG5 Gene

  • Autophagy Related 5 2 3 5
  • ASP 2 3 4
  • Apoptosis-Specific Protein 3 4
  • Autophagy Protein 5 3 4
  • APG5L 3 4
  • HAPG5 2 3
  • APG5 2 3
  • ATG5 Autophagy Related 5 Homolog (S. Cerevisiae) 2
  • APG5 (Autophagy 5, S. Cerevisiae)-Like 2
  • APG5 Autophagy 5-Like (S. Cerevisiae) 2
  • ATG5 Autophagy Related 5 Homolog 3
  • APG5 Autophagy 5-Like 3
  • APG5-LIKE 3
  • APG5-Like 4
  • SCAR25 3
  • ATG5 5

External Ids for ATG5 Gene

Previous HGNC Symbols for ATG5 Gene

  • APG5L

Previous GeneCards Identifiers for ATG5 Gene

  • GC06M106740
  • GC06M106632
  • GC06M104079
  • GC06M106184

Summaries for ATG5 Gene

Entrez Gene Summary for ATG5 Gene

  • The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

GeneCards Summary for ATG5 Gene

ATG5 (Autophagy Related 5) is a Protein Coding gene. Diseases associated with ATG5 include Spinocerebellar Ataxia, Autosomal Recessive 25 and Stomatitis. Among its related pathways are Macroautophagy and Shigellosis. Gene Ontology (GO) annotations related to this gene include Atg8 ligase activity.

UniProtKB/Swiss-Prot Summary for ATG5 Gene

  • Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway.
  • May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.
  • (Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601).

Gene Wiki entry for ATG5 Gene

Additional gene information for ATG5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATG5 Gene

Genomics for ATG5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ATG5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J106324 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.5 520 3 BRCA1 HNRNPL CREB1 GATAD2A ATF7 TEAD4 PRDM10 REST ZNF629 TFE3 ATG5 lnc-RTN4IP1-2 BEND3 RF00026-955 RNU6-344P PRDM1
GH06J106509 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 19.4 -187.2 -187179 7.6 RNF2 HNRNPL GATAD2A CTCF PRDM10 ZNF629 KDM1A ZNF692 RCOR2 ZHX2 BEND3 SOBP ATG5 CRYBG1 QRSL1 LOC101927405 lnc-ATG5-4
GH06J106082 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10 +239.0 239028 8.8 CREB1 CTCF PRDM10 ZNF692 POLR2A BACH1 JUND FOXA1 LARP7 PHF21A PRDM1 lnc-RTN4IP1-6 RNU6-344P ATG5 ENSG00000269919 RF00017-5697
GH06J106044 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 11.2 +274.8 274783 13.5 JUND PRDM1 POLR2A HDAC1 SOX6 CEBPA EP300 UBTF MTA3 CTBP1 PRDM1 ATG5 lnc-PRDM1-1 lnc-ATG5-7 RF00017-5697
GH06J105803 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 11.2 +521.2 521215 2.9 RFX1 LEF1 IKZF1 JUND PHF21A PKNOX1 NR2C1 ZNF24 BRD9 DPF2 PRDM1 ATG5 HACE1 lnc-ATG5-8 RF00017-5695 ENSG00000284999 LOC105377923 PREP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATG5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATG5

Top Transcription factor binding sites by QIAGEN in the ATG5 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • Hlf
  • HNF-3beta
  • p53
  • POU3F2
  • RORalpha2
  • SRF
  • SRF (504 AA)

Genomic Locations for ATG5 Gene

Genomic Locations for ATG5 Gene
chr6:106,045,423-106,325,820
(GRCh38/hg38)
Size:
280,398 bases
Orientation:
Minus strand
chr6:106,632,351-106,773,695
(GRCh37/hg19)
Size:
141,345 bases
Orientation:
Minus strand

Genomic View for ATG5 Gene

Genes around ATG5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATG5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATG5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ATG5 Gene

Proteins for ATG5 Gene

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  • Protein details for ATG5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1Y0-ATG5_HUMAN
    Recommended name:
    Autophagy protein 5
    Protein Accession:
    Q9H1Y0
    Secondary Accessions:
    • O60875
    • Q5JVR2
    • Q68DI4
    • Q9H2B8
    • Q9HCZ7

    Protein attributes for ATG5 Gene

    Size:
    275 amino acids
    Molecular mass:
    32447 Da
    Quaternary structure:
    • Forms a conjugate with ATG12 (PubMed:12207896, PubMed:11825910, PubMed:17709747, PubMed:26812546). The ATG5-ATG12 conjugate forms a complex with several units of ATG16L. Interacts with TECPR1; the interaction is direct and does not take place when ATG16L is associated with the ATG5-ATG12 conjugate (PubMed:21575909, PubMed:22342342). Interacts with DHX58/RIG-1, IFIH1/MDA5 and MAVS/IPS-1 in monomeric form as well as in ATG12-ATG5 conjugate form. The interaction with MAVS is further enhanced upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Interacts with ATG3 (PubMed:12207896, PubMed:11825910). Interacts with ATG7 and ATG10 (By similarity). Interacts with FADD (PubMed:15778222). Interacts with Bassoon/BSN; this interaction is important for the regulation of presynaptic autophagy (By similarity).
    • (Microbial infection) Interacts transiently interacts with hepatitis C virus (HCV) protein NS5B during HCV infection.

    Three dimensional structures from OCA and Proteopedia for ATG5 Gene

    Alternative splice isoforms for ATG5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATG5 Gene

Protein Expression for ATG5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ATG5 Gene

  • Conjugated to ATG12; which is essential for autophagy, but is not required for association with isolation membrane.
  • Acetylated by EP300.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATG5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ATG5 Gene

Domains & Families for ATG5 Gene

Gene Families for ATG5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ATG5 Gene

InterPro:
Blocks:
  • Autophagy protein Apg5
ProtoNet:

Suggested Antigen Peptide Sequences for ATG5 Gene

GenScript: Design optimal peptide antigens:
  • ATG5 autophagy related 5-like (A9UGY9_HUMAN)
  • Apoptosis-specific protein (ATG5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H1Y0

UniProtKB/Swiss-Prot:

ATG5_HUMAN :
  • Belongs to the ATG5 family.
Family:
  • Belongs to the ATG5 family.
genes like me logo Genes that share domains with ATG5: view

Function for ATG5 Gene

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Molecular function for ATG5 Gene

UniProtKB/Swiss-Prot Function:
Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway.
UniProtKB/Swiss-Prot Function:
May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD.
UniProtKB/Swiss-Prot Function:
(Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601).
UniProtKB/Swiss-Prot Induction:
By apoptotic stimuli.

Phenotypes From GWAS Catalog for ATG5 Gene

Gene Ontology (GO) - Molecular Function for ATG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9852036
genes like me logo Genes that share ontologies with ATG5: view
genes like me logo Genes that share phenotypes with ATG5: view

Human Phenotype Ontology for ATG5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATG5 Gene

MGI Knock Outs for ATG5:
  • Atg5 Atg5<tm1Nmz>
  • Atg5 Atg5<tm1.1Myok>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ATG5 Gene

Localization for ATG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATG5 Gene

Cytoplasm. Preautophagosomal structure membrane. Peripheral membrane protein. Note=Colocalizes with nonmuscle actin. The conjugate detaches from the membrane immediately before or after autophagosome formation is completed (By similarity). Localizes also to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATG5 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
lysosome 4
plasma membrane 3
extracellular 3
mitochondrion 3
nucleus 3
endoplasmic reticulum 3
endosome 3
peroxisome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005776 autophagosome IDA 15292400
GO:0005829 cytosol TAS --
GO:0005930 axoneme IEA,ISS --
GO:0016020 membrane IEA,IDA 23093945
genes like me logo Genes that share ontologies with ATG5: view

Pathways & Interactions for ATG5 Gene

genes like me logo Genes that share pathways with ATG5: view

Gene Ontology (GO) - Biological Process for ATG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IEA,ISS --
GO:0000422 autophagy of mitochondrion IEA,IBA 21873635
GO:0001974 blood vessel remodeling IEA --
GO:0002376 immune system process IEA --
GO:0002718 regulation of cytokine production involved in immune response IEA --
genes like me logo Genes that share ontologies with ATG5: view

No data available for SIGNOR curated interactions for ATG5 Gene

Drugs & Compounds for ATG5 Gene

Products:

  1. Drug

(3) Drugs for ATG5 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adalimumab Approved Pharma 602

(1) Additional Compounds for ATG5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ATG5: view

Transcripts for ATG5 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for ATG5 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG5

Alternative Splicing Database (ASD) splice patterns (SP) for ATG5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1: -
SP2:
SP3: -
SP4: - -
SP5: - - - -

Relevant External Links for ATG5 Gene

GeneLoc Exon Structure for
ATG5

Expression for ATG5 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATG5 Gene

mRNA expression in normal human tissues for ATG5 Gene
mRNA expression by BioGPS for ATG5 GenemRNA expression by GTEx for ATG5 Gene

Protein differential expression in normal tissues from HIPED for ATG5 Gene

This gene is overexpressed in Stomach (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATG5 Gene



Protein tissue co-expression partners for ATG5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATG5

SOURCE GeneReport for Unigene cluster for ATG5 Gene:

Hs.486063

mRNA Expression by UniProt/SwissProt for ATG5 Gene:

Q9H1Y0-ATG5_HUMAN
Tissue specificity: Ubiquitous. The mRNA is present at similar levels in viable and apoptotic cells, whereas the protein is dramatically highly expressed in apoptotic cells.

Evidence on tissue expression from TISSUES for ATG5 Gene

  • Nervous system(4.7)
  • Liver(3.2)
  • Kidney(3.1)
  • Heart(3.1)
  • Muscle(3.1)
  • Blood(3.1)
  • Intestine(3)
  • Lung(3)
  • Spleen(3)
  • Skin(3)
  • Lymph node(2.9)
  • Bone marrow(2.7)
  • Pancreas(2.6)
  • Eye(2.5)
  • Stomach(2.5)
  • Adrenal gland(2.4)
  • Thyroid gland(2.4)
  • Bone(2.1)
genes like me logo Genes that share expression patterns with ATG5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATG5 Gene

Orthologs for ATG5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATG5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ATG5 30 31
  • 100 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ATG5 31
  • 96 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ATG5 30 31
  • 95.64 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ATG5 30 31
  • 95.27 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Atg5 30 17 31
  • 91.76 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ATG5 31
  • 80 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ATG5 30 31
  • 84.73 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ATG5 31
  • 90 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia atg5 30
  • 78.64 (n)
Str.17181 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.23730 30
Zebrafish
(Danio rerio)
 Actinopterygii atg5 30 31
  • 73.87 (n)
 OneToOne
Dr.12686 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010939 30
  • 55.77 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Atg5 30 31
  • 54.58 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea atg-5 30 31
  • 49.1 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ATG5 31 33 33
  • 25 (a)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons APG5 30
  • 46.92 (n)
Rice
(Oryza sativa)
 Liliopsida Os02g0117800 30
  • 44.83 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.7077 31
  • 46 (a)
 OneToOne
Species where no ortholog for ATG5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATG5 Gene

ENSEMBL:
Gene Tree for ATG5 (if available)
TreeFam:
Gene Tree for ATG5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATG5: view image

Paralogs for ATG5 Gene

(1) SIMAP similar genes for ATG5 Gene using alignment to 4 proteins:

  • ATG5_HUMAN
  • A9UGY9_HUMAN
  • L7UMD8_HUMAN
  • L7UQJ2_HUMAN
genes like me logo Genes that share paralogs with ATG5: view

No data available for Paralogs for ATG5 Gene

Variants for ATG5 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATG5 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
730897 Benign: not provided 106,279,754(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
770178 Benign: not provided 106,308,407(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
788412 Benign: not provided 106,316,143(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
789288 Benign: not provided 106,293,114(-) T/C INTRON_VARIANT
rs1131692265 Pathogenic: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25. Spinocerebellar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584] 106,279,773(-) T/Ap.Glu122Asp MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ATG5 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATG5 Gene

Variant ID Type Subtype PubMed ID
dgv391n21 CNV gain 19592680
dgv6134n100 CNV gain 25217958
esv24511 CNV loss 19812545
esv2615044 CNV insertion 19546169
esv26469 CNV gain 19812545
esv2657202 CNV deletion 23128226
esv2677509 CNV deletion 23128226
esv3450548 CNV insertion 20981092
esv3610266 CNV gain 21293372
esv3610267 CNV gain 21293372
esv3610268 CNV gain 21293372
esv3610270 CNV loss 21293372
esv3610271 CNV loss 21293372
esv3610272 CNV gain 21293372
esv3610273 CNV loss 21293372
nsv1025231 CNV gain 25217958
nsv1161442 CNV duplication 26073780

Variation tolerance for ATG5 Gene

Residual Variation Intolerance Score: 42.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATG5 Gene

Human Gene Mutation Database (HGMD)
ATG5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATG5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATG5 Gene

Disorders for ATG5 Gene

MalaCards: The human disease database

(12) MalaCards diseases for ATG5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 25
  • scar25
stomatitis
hepatitis c virus
  • hepatitis c virus, susceptibility to
hepatitis
  • hepatitis a
vici syndrome
  • vicis
- elite association - COSMIC cancer census association via MalaCards
Search ATG5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATG5_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR25 patients manifest delayed psychomotor development with delayed walking, truncal ataxia, dysmetria, and nystagmus, Cerebellar hypoplasia is seen on brain imaging. {ECO:0000269 PubMed:26812546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ATG5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ATG5: view

No data available for Genatlas for ATG5 Gene

Publications for ATG5 Gene

  1. Essential roles of Atg5 and FADD in autophagic cell death: dissection of autophagic cell death into vacuole formation and cell death. (PMID: 15778222) Pyo JO … Jung YK (The Journal of biological chemistry 2005) 2 3 4 23
  2. Homology between a human apoptosis specific protein and the product of APG5, a gene involved in autophagy in yeast. (PMID: 9563500) Hammond EM … Grand RJ (FEBS letters 1998) 2 3 4 23
  3. Regulation of autophagy by the p300 acetyltransferase. (PMID: 19124466) Lee IH … Finkel T (The Journal of biological chemistry 2009) 3 4 23
  4. Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B and ATG12 in gastric and colorectal cancers with microsatellite instability. (PMID: 19197948) Kang MR … Lee SH (The Journal of pathology 2009) 3 23 41
  5. A new protein conjugation system in human. The counterpart of the yeast Apg12p conjugation system essential for autophagy. (PMID: 9852036) Mizushima N … Ohsumi Y (The Journal of biological chemistry 1998) 3 4 23

ExternalLinks

View latest publications for ATG5 gene in Mastermind

Products for ATG5 Gene

  • Addgene plasmids for ATG5

Sources for ATG5 Gene